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Items: 1 to 20 of 206

1.

Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness.

Dan H, Song X, Li J, Xing Y, Li T.

Ophthalmic Genet. 2017 May-Jun;38(3):206-210. doi: 10.1080/13816810.2016.1193876. Epub 2016 Jul 18.

PMID:
27428514
2.

Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.

Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM.

Ophthalmology. 2013 Oct;120(10):2072-81. doi: 10.1016/j.ophtha.2013.03.002. Epub 2013 May 25.

PMID:
23714322
3.

Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort.

Malaichamy S, Sen P, Sachidanandam R, Arokiasamy T, Lancelot ME, Audo I, Zeitz C, Soumittra N.

Mol Vis. 2014 Mar 21;20:341-51. eCollection 2014. Erratum in: Mol Vis. 2014;20:780.

4.

Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.

Neuillé M, Malaichamy S, Vadalà M, Michiels C, Condroyer C, Sachidanandam R, Srilekha S, Arokiasamy T, Letexier M, Démontant V, Sahel JA, Sen P, Audo I, Soumittra N, Zeitz C.

Clin Genet. 2016 Jun;89(6):690-9. doi: 10.1111/cge.12746. Epub 2016 Mar 4.

PMID:
26822852
5.

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.

Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuillé M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, Bocquet B; Congenital Stationary Night Blindness Consortium, Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H, Poch O, Dollfus H, Lecompte O, Kohl S, Sahel JA, Bhattacharya SS, Audo I.

Am J Hum Genet. 2013 Jan 10;92(1):67-75. doi: 10.1016/j.ajhg.2012.10.023. Epub 2012 Dec 13.

6.

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C; GNB3 Consortium, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E.

Am J Hum Genet. 2016 May 5;98(5):1011-1019. doi: 10.1016/j.ajhg.2016.03.021. Epub 2016 Apr 7.

7.

Retinal findings in a patient of French ancestry with CABP4-related retinal disease.

Smirnov VM, Zeitz C, Soumittra N, Audo I, Defoort-Dhellemmes S.

Doc Ophthalmol. 2018 Apr;136(2):135-143. doi: 10.1007/s10633-018-9629-y. Epub 2018 Mar 10.

PMID:
29525873
8.
9.

Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.

Miraldi Utz V, Pfeifer W, Longmuir SQ, Olson RJ, Wang K, Drack AV.

JAMA Ophthalmol. 2018 Apr 1;136(4):389-398. doi: 10.1001/jamaophthalmol.2018.0185.

10.

[Overview of Congenital Stationary Night Blindness with Predominantly Normal Fundus Appearance].

Zeitz C, Friedburg C, Preising MN, Lorenz B.

Klin Monbl Augenheilkd. 2018 Mar;235(3):281-289. doi: 10.1055/s-0043-123072. Epub 2018 Feb 1. Review. German.

PMID:
29390235
11.

Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness.

Orhan E, Prézeau L, El Shamieh S, Bujakowska KM, Michiels C, Zagar Y, Vol C, Bhattacharya SS, Sahel JA, Sennlaub F, Audo I, Zeitz C.

Invest Ophthalmol Vis Sci. 2013 Dec 9;54(13):8041-50. doi: 10.1167/iovs.13-12610.

PMID:
24222301
12.

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C.

Am J Hum Genet. 2012 Feb 10;90(2):321-30. doi: 10.1016/j.ajhg.2011.12.007. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209.

13.

Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness.

Dai S, Ying M, Wang K, Wang L, Han R, Hao P, Li N.

Sci Rep. 2015 Aug 3;5:12679. doi: 10.1038/srep12679.

14.

Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.

Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen T, Rosenberg T.

Invest Ophthalmol Vis Sci. 2016 Dec 1;57(15):6861-6869. doi: 10.1167/iovs.16-19445.

15.

Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association.

Marmor MF, Zeitz C.

Doc Ophthalmol. 2018 Aug;137(1):57-62. doi: 10.1007/s10633-018-9651-0. Epub 2018 Jul 26.

PMID:
30051303
16.

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.

Zeitz C, Robson AG, Audo I.

Prog Retin Eye Res. 2015 Mar;45:58-110. doi: 10.1016/j.preteyeres.2014.09.001. Epub 2014 Oct 13. Review.

PMID:
25307992
17.

Identification of a new mutant allele, Grm6(nob7), for complete congenital stationary night blindness.

Qian H, Ji R, Gregg RG, Peachey NS.

Vis Neurosci. 2015 Jan;32:E004. doi: 10.1017/S0952523815000012.

18.

A common NYX mutation in Flemish patients with X linked CSNB.

Leroy BP, Budde BS, Wittmer M, De Baere E, Berger W, Zeitz C.

Br J Ophthalmol. 2009 May;93(5):692-6. doi: 10.1136/bjo.2008.143727. Epub 2008 Jul 10.

19.

Clinical characterisation of the CABP4-related retinal phenotype.

Khan AO, Alrashed M, Alkuraya FS.

Br J Ophthalmol. 2013 Mar;97(3):262-5. doi: 10.1136/bjophthalmol-2012-302186. Epub 2012 Oct 25.

PMID:
23099293
20.

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.

Naeem MA, Gottsch AD, Ullah I, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.

Mol Vis. 2015 Oct 31;21:1261-71. eCollection 2015.

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